Abstract
Adult rhabdomyosarcoma (RMS) represents an uncommon entity with an incidence of less than 3% of all soft tissue sarcomas (STS). Consequently, the natural history and the clinical management of this disease are infrequently reported. In order to fill this gap, we investigated the molecular biology of an adult RMS case series. The expression of epithelial mesenchymal transition-related gene and chemoresistance-related gene panels were evaluated. Moreover, taking advantage of our STS translational model combining patient-derived primary culture and 3D-scaffold, the pharmacological profile of an adult head and neck sclerosing RMS was assessed. Furthermore, NGS, microsatellite instability, and in silico analyses were carried out. RT-PCR identified the upregulation of CDH1, SLUG, MMP9, RAB22a, S100P, and LAPTM4b, representing promising biomarkers for this disease. Pharmacological profiling showed the highest sensitivity with anthracycline-based regimen in both 2D and 3D culture systems. NGS analysis detected RAB3IP-HMGA2 in frame gene rearrangement and FGFR4 mutation; microsatellite instability analysis did not detect any alteration. In silico analysis confirmed the mutation of FGFR4 as a promising marker for poor prognosis and a potential therapeutic target. We report for the first time the molecular and pharmacological characterization of rare entities of adult head and neck and posterior trunk RMS. These preliminary data could shed light on this poorly understood disease.
Highlights
Rhabdomyosarcoma (RMS) represents one of the most frequent soft tissue sarcomas (STS) of children but is very uncommon in adult STS, accounting for less than 3%
In February 2019, the patient underwent a complex surgery consisting of a resection of the local disease with right lateral cervical lymphadenectomy, removal of parotid, and mandibular demolition with reconstruction by right peroneal flap performed by a specialized team of maxillofacial surgeons (Supplementary Figure S1)
The histology reported the diagnosis of high grade sclerosing rhabdomyosarcoma of the masseter parotid region of about 7 cm with positive surgical margins, 60% Ki-67 positivity and one lymph node as site of micro-metastasis
Summary
Rhabdomyosarcoma (RMS) represents one of the most frequent soft tissue sarcomas (STS) of children but is very uncommon in adult STS, accounting for less than 3%. Due to the rarity of adult RMS, limited information about biological features, prognostic factors, and response to chemotherapy are currently available. For this reason, the current management of adult RMS is often based on studies done in the pediatric setting. In adult RMS, the most common site for metastasis is lungs (50%), followed by bone marrow, lymph nodes, and, less frequently, the brain [4,5]. For children RMS, the most reported sites for metastasis are lungs (47%), which represent the only dissemination site for 18% of metastatic patients, followed by bone marrow (38%), bone (34%), and distant lymph nodes (26%) [6]
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